SarahESodenMD

PubMed

• Pharmacogenetic Testing in Patients with Autism Spectrum Disorder Evaluated in a Precision Medicine Clinic.
  Jennifer Wagner, Tracy Sandritter, Vincent S Staggs, Sarah Soden, Cy Nadler, Goodson, R.> ;Journal of Developmental and Behavioral Pediatrics. 2023 Oct 6
• 2 citations
  A longitudinal study of cytochrome P450 2D6 (CYP2D6) activity during adolescence.
  J Steven Leeder, Andrea Gaedigk, Krista J Wright, Vincent S Staggs, Sarah E Soden, Yvonne S Lin, Robin E Pearce> ;Clinical and Translational Science. 2022 Oct 1
• 7 citations
  Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.
  Isabelle Thiffault, Andrea M. Atherton, Bryce Heese, Ahmed Abdelmoity, Kailash Pawar, Emily G. Farrow, Lee Zellmer, Neil A. Miller, Sarah E Soden, Carol J Saunders> ;Cold Spring Harbor Molecular Case Studies. 2020 Jun 12
• 25 citations
  Parents of newborns in the NICU enrolled in genome sequencing research: hopeful, but not naïve
  Courtney D Berrios, Catherine Koertje, Janelle R Noel-Macdonnell PhD, Sarah E Soden, John D. Lantos> ;Genetics in Medicine. 2020 Feb 1
• Using dried blood spots for variant analysis for patients with haemophilia.
  Lauren E Amos, Byunggil Yoo, Neil A. Miller, Emily G. Farrow, Adam Walter, Margaret Gibson, Sara Durham, Suzanne Herd, Sarah E Soden, Shannon L. Carpenter> ;Haemophilia. 2019 Jul 30
• 30 citations
  Clinical genome sequencing in an unbiased pediatric cohort
  Isabelle Thiffault, Emily G. Farrow, Lee Zellmer, Courtney D Berrios, Neil A. Miller, Margaret Gibson, Raymond Caylor, Janda L Jenkins, Deb Faller, Sarah E Soden, Caro...> ;Genetics in Medicine. 2019 Feb 1
• Correction to: Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings.
  Raymond Caylor, Lauren Grote, Isabelle Thiffault, Emily G. Farrow, Laurel K. Willig, Sarah E Soden, Shivarajan M. Amudhavalli, Amy J. Nopper, Kimberly A. Horii, Emily ...> ;Neurogenetics. 2018 Dec 1
• 7 citations
  On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing
  Isabelle Thiffault, Maxime Cadieux-Dion, Emily G. Farrow, Raymond Caylor, Neil A. Miller, Sarah E Soden, Carol J Saunders> ;Human Mutation. 2018 Nov 1
• 6 citations
  Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings.
  Raymond Caylor, Lauren Grote, Isabelle Thiffault, Emily G. Farrow, Laurel K. Willig, Sarah E Soden, Shivarajan M. Amudhavalli, Amy J. Nopper, Kimberly A. Horii, Emily ...> ;Neurogenetics. 2018 Jun 20
• 14 citations
  Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.
  Isabelle Thiffault, Britton Zuccarelli, Holly I Welsh, Xuan Yuan, Emily G. Farrow, Lee Zellmer, Neil A. Miller, Sarah E Soden, Ahmed Abdelmoity, Robert A. Brodsky, Car...> ;BMC Medical Genetics. 2017 Nov 2
• 31 citations
  GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant.
  Michelle M. Giddens, Jennifer C. Wong, Jason P. Schroeder, Emily G. Farrow, Brilee M. Smith, Sharon Owino, Sarah E Soden, Rebecca C. Meyer, Carol J Saunders, Jean-Bapt...> ;Neurobiology of Disease. 2017 Oct 1
• 6 citations
  In vivo characterization of CYP2D6*12, *29 and *84 using dextromethorphan as a probe drug: a case report.
  Andrea Gaedigk, Greyson P Twist, Emily G. Farrow, Jennifer Lowry, Sarah E Soden, Neil A. Miller> ;Pharmacogenomics. 2017 Mar 14
• 29 citations
  Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene,, from whole-genome sequences.
  Greyson P Twist, Andrea Gaedigk, Neil A Miller, Emily G Farrow, Laurel K Willig, Darrell L Dinwiddie, Josh E Petrikin, Sarah E Soden, Suzanne Herd, Margaret Gibson, Ju...> ;NPJ Genomic Medicine. 2017 Jan 1
• 17 citations
  Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.
  Florian Job, Shuji Mizumoto, Laurie G. Smith, Natario L. Couser, Ashley Brazil, Howard M. Saal, Melanie Patterson, Margaret Gibson, Sarah E Soden, Neil A. Miller, Isab...> ;BMC Medical Genetics. 2016 Nov 21
• 4 citations
  Clinical and Pharmacologic Considerations for Guanfacine Use in Very Young Children
  Benjamin T. Black, Sarah E Soden, Gregory L. Kearns, Bridgette L. Jones> ;Journal of Child and Adolescent Psychopharmacology. 2016 Aug 1
• 35 citations
  PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.
  Isabelle Thiffault, Emily G. Farrow, Laurie G. Smith, Jennifer Lowry, Lee Zellmer, Benjamin T. Black, Ahmed Abdelmoity, Neil A. Miller, Sarah E Soden, Carol J Saunders> ;American Journal of Medical Genetics. Part A. 2016 Jun 1
• 31 citations
  Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene,, from whole-genome sequences.
  Greyson P Twist, Andrea Gaedigk, Neil A Miller, Emily G Farrow, Laurel K Willig, Darrell L Dinwiddie, Josh E Petrikin, Sarah E Soden, Suzanne Herd, Margaret Gibson, Ju...> ;NPJ Genomic Medicine. 2016 Jan 1
• 66 citations
  A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.
  Isabelle Thiffault, David J. Speca, Daniel C. Austin, Melanie H. Cobb, Kenneth S. Eum, Nicole P. Safina, Lauren Grote, Emily G. Farrow, Neil A. Miller, Sarah E Soden, ...> ;The Journal of General Physiology. 2015 Nov 1
• 163 citations
  A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases
  Neil A. Miller, Emily G. Farrow, Margaret Gibson, Laurel K. Willig, Greyson P Twist, Byunggil Yoo, Tyler Marrs, Shane Corder, Lisa Ann Krivohlavek, Adam Walter, Josh E...> ;Genome Medicine. 2015 Sep 30
• 5 citations
  The Future of Next-Generation Sequencing in Neurology
  Jean-Baptiste LePichon, Carol J Saunders, Sarah E Soden> ;JAMA Neurology. 2015 Sep 1
• 250 citations
  Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings
  Laurel K. Willig, Josh E Petrikin, Laurie D. Smith, Carol J Saunders, Isabelle Thiffault, Neil A. Miller, Sarah E Soden, Julie A. Cakici, Suzanne Herd, Greyson P Twist...> ;The Lancet. Respiratory Medicine. 2015 May 1
• 410 citations
  Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
  Sarah E Soden, Carol J Saunders, Laurel K. Willig, Emily G. Farrow, Laurie D. Smith, Josh E Petrikin, Jean Baptiste LePichon, Neil A. Miller, Isabelle Thiffault, Darre...> ;Science Translational Medicine. 2014 Dec 3
• 11 citations
  Individualizing the use of medications in children: making Goldilocks happy.
  J. S. Leeder, Jacob T. Brown, Sarah E Soden> ;Clinical Pharmacology and Therapeutics. 2014 Sep 1
• 26 citations
  Utility of Next Generation Sequencing in Clinical Primary Immunodeficiencies
  Nikita Raje, Sarah E Soden, Douglas S. Swanson, Christina E. Ciaccio, Stephen F. Kingsmore, Darrell L. Dinwiddie> ;Current Allergy and Asthma Reports. 2014 Aug 23
• 30 citations
  Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing
  Darrell L. Dinwiddie, Julia M. Bracken, Julie A. Bass, Kathy Christenson, Sarah E Soden, Carol J. Saunders, Neil A. Miller, Vivekanand Singh, David L. Zwick, Charles C...> ;Genomics. 2013 Nov 1
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